Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss

A case report

Hye Ji Choi, Joon Suk Lee, Seyoung Yu, Do Hyeon Cha, Heon Yung Gee, Jae Young Choi, Jong Dae Lee, Jinsei Jung

Research output: Contribution to journalArticle

Abstract

Background: Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene. Case presentation: Family members underwent audiological and imaging evaluations, including pure tone audiometry and temporal bone computed tomography. Blood samples were collected from two affected and two unaffected subjects. To determine the genetic background of hearing loss in this family, genetic analysis was performed using whole-exome sequencing. Among 553 missense variants, c.2419A → C (p.Ser807Arg) in WFS1 remained after filtering and inspection of whole-exome sequencing data. This missense mutation segregated with affected status and demonstrated an alteration to an evolutionarily conserved amino acid residue. Audiological evaluation of the affected subjects revealed nonprogressive LF-NSHL, with early onset at 10 years of age, but not to a profound level. Conclusion: This is the second report to describe a pathological mutation in WFS1 among Korean patients and the second to describe the mutation in a different ethnic background. Given that the mutation was found in independent families, p.S807R possibly appears to be a "hot spot" in WFS1, which is associated with LF-NSHL.

Original languageEnglish
Article number151
JournalBMC Medical Genetics
Volume18
Issue number1
DOIs
Publication statusPublished - 2017 Dec 19

Fingerprint

Wolfram Syndrome
Exome
Missense Mutation
Hearing Loss
Mutation
Pure-Tone Audiometry
Temporal Bone
Tomography
Amino Acids
Nonsyndromic Deafness
Genes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Choi, Hye Ji ; Lee, Joon Suk ; Yu, Seyoung ; Cha, Do Hyeon ; Gee, Heon Yung ; Choi, Jae Young ; Lee, Jong Dae ; Jung, Jinsei. / Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss : A case report. In: BMC Medical Genetics. 2017 ; Vol. 18, No. 1.
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abstract = "Background: Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene. Case presentation: Family members underwent audiological and imaging evaluations, including pure tone audiometry and temporal bone computed tomography. Blood samples were collected from two affected and two unaffected subjects. To determine the genetic background of hearing loss in this family, genetic analysis was performed using whole-exome sequencing. Among 553 missense variants, c.2419A → C (p.Ser807Arg) in WFS1 remained after filtering and inspection of whole-exome sequencing data. This missense mutation segregated with affected status and demonstrated an alteration to an evolutionarily conserved amino acid residue. Audiological evaluation of the affected subjects revealed nonprogressive LF-NSHL, with early onset at 10 years of age, but not to a profound level. Conclusion: This is the second report to describe a pathological mutation in WFS1 among Korean patients and the second to describe the mutation in a different ethnic background. Given that the mutation was found in independent families, p.S807R possibly appears to be a {"}hot spot{"} in WFS1, which is associated with LF-NSHL.",
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Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss : A case report. / Choi, Hye Ji; Lee, Joon Suk; Yu, Seyoung; Cha, Do Hyeon; Gee, Heon Yung; Choi, Jae Young; Lee, Jong Dae; Jung, Jinsei.

In: BMC Medical Genetics, Vol. 18, No. 1, 151, 19.12.2017.

Research output: Contribution to journalArticle

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AU - Choi, Hye Ji

AU - Lee, Joon Suk

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AU - Cha, Do Hyeon

AU - Gee, Heon Yung

AU - Choi, Jae Young

AU - Lee, Jong Dae

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